A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

BACKGROUND: Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth. METHODS: An affected dizygotic twin pair from a non‐consanguineous Chinese famil...

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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Yi, Sheng, Zhang, Yue, Qin, Zailong, Yi, Shang, Zheng, Haiyang, Luo, Jingsi, Li, Qifei, Wang, Jin, Yang, Qi, Li, Mengting, Chen, Fei, Zhang, Qiang, Zhang, Qinle, Shen, Yiping
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2021
Matèries:
Clinical Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8222828/
https://ncbi.nlm.nih.gov/pubmed/33978323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1683
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